Product Details

SNP ID
rs113209039
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:4777922 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGGCCCGCGGGGCAGCAGGTGGC[C/T]TTCATTGAGTCTGATGACGCGGTAG
Phenotype
MIM: 611562
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SEPT12 PubMed Links

Gene Details

Gene
SEPT12
Gene Name
septin 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001154458.2 1216 Missense Mutation AGC,GGC S272G NP_001147930.1
NM_144605.4 1216 Missense Mutation AGC,GGC S318G NP_653206.2
XM_006720846.2 1216 Missense Mutation AGC,GGC S318G XP_006720909.1
XM_011522379.2 1216 Missense Mutation AGC,GGC S254G XP_011520681.1
XM_017022938.1 1216 Missense Mutation AGC,GGC S324G XP_016878427.1

View Full Product Details